Genes Don’t Exist to Cause Disease

It is not uncommon during labs on mutations, to discuss that mutations can cause genetic disease. Students will use the phrase “the gene for breast cancer” or “the gene for hemophilia” when these discussions take place. What many think, is that individuals with breast cancer or other genetic diseases have a gene that others do not. In reality, they have a gene that everyone has, but the gene has a mutation that affects its function. Genes don’t exist to cause disease. This is a recurrent theme for me!

For example, when someone has hemophilia (a blood clotting disorder), there is a mutation in a gene that normally tells our cells how to make proteins called clotting factors. The mutation prevents a specific clotting factor from being produced, and as a result, the individual carrying the mutation has the disease and the blood doesn’t clot as it should after an injury. It’s a gene we all have, but if someone has hemophilia, the gene just isn’t working properly.

Another common misunderstanding is that if a disease is genetic, it is always inherited. It is true that many disease-causing mutations are inherited. Sometimes though, the mutations that cause genetic diseases develop over time, after we are born. Many of the mutations associated with the development of cancer, accumulate in our cells as we age, and aren’t inherited. These diseases are genetic, because they are caused by mutations in genes, but they aren’t passed from parent to offspring. Less than 10% of all cancers are inherited!

It’s no wonder that not only children, but adults too, are misinformed. These types of incorrect phrases and misinterpretations are printed all the time in magazine and newspapers. So where do you go for correct information? To learn more about the genetics of cancer, go to: www.insidecancer.org. To learn more about basic laws of inheritance, use DNA From the Beginning (www.dnaftb.org). To learn more about the inheritance of mutations that cause disease, go to: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd, the Online Mendelian Inheritance in Men (OMIM) database.

This entry was posted by Amanda McBrien on February 17, 2010 at 5:47 pm, and is filed under DNA From The Beginning. Follow any responses to this post through RSS 2.0. You can skip to the end and leave a response. Pinging is currently not allowed.

No comments yet.

Mobile chunks of DNA that walk their way from one position in the genome to another may affect neurological diseases and could have subtle influences on normal brain function and behavior, according to a recent study in Nature. Alu is an example of a so-called “jumping gene” – a transposable DNA sequence that “reproduces” by…

When someone mentions cholesterol many will say, how is your HDL? Cholesterol travels through the blood attached to lipoproteins. From a health prospective we try to maintain the good cholesterol (High density lipoproteins or HDL) and decrease the bad cholesterol (Low density lipoproteins or LDL). The HDL aids the body in removal of bad cholesterol…

It’s the season of hibernation, something I’ve always wished I could do. Oh, to wrap up in a ball, sleep away the winter, and wake to a beautiful spring day – like Bambi! Although the thought has always intrigued me, it never really occurred to me what a feat hibernation actually is. It turns out…

Epigenetics is the study of chemical reactions that control the on and off switch of genes at specific times and the factors influencing them. Environment is a factor that influences epigenetic change which may encompass behavior, stress or diet. The easiest of the three to make observations from is diet. When we think of food,…

Gene therapy is a technique that offers the potential to replace defective copies of genes in any genetic disease with an intact version. While the idea of this treatment sounds alluring, the actual practice of it is a whole other story. There are a few drawbacks to this technique that must be considered, including the…

How is drug development moving along? Well, this is a very good question for we are still plagued by some elusive diseases, cancer for example. There have been many drugs developed targeting proteins involved in disease states some of which have proven to be quite effective. However today the steam engine for identifying drug targets…

One of the biggest challenges facing cancer researchers is that the disease varies so much from person to person. Even the same type of cancer – lung, brain, breast, colon, and so on – can be subtly different. This means that a therapy that works well in one patient may have no effect in another.…

When we think of a detective the first thing that comes to mind is an investigator, either a member of a police agency or a private entity. However there are unique detectives within the multifaceted arena of medicine. All though we might already think of most doctors as detectives there are special doctors, units, working at…

Autumn is my favorite season. I enjoy the cool weather, unpacking my sweaters from the attic and sleeping under my cozy comforter. But better than all of the above are the fantastic red, yellow and orange leaves that adorn the deciduous trees here in New York. Before I worked at the DNA Learning Center, this…

I asked a group of 5th graders the other day whether or not we can learn anything from studying other living things. For example, if we mutate or change the DNA of another organism, like fruit flies (D. melanogaster), can we learn anything about what can happen when human DNA changes? For this particular class,…